Estrogen receptor beta variants and methods of detection thereof

a technology of estrogen receptor and beta variant, applied in the field of estrogen receptor beta variant, can solve the problems of estrogen replacement therapy not being without risks, estrogen replacement increasing and the risk of breast cancer is elevated by as much as 30%
US20040185439A1Inactive Publication Date: 2004-09-23APPL BIOSYSTEMS INC

Patent Information

Authority / Receiving Office
US ยท United States
Current Assignee / Owner
APPL BIOSYSTEMS INC
Publication Date
2004-09-23
Estimated Expiration
Not applicable ยท inactive patent

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Abstract

The present invention is based on sequencing genomic DNA from human chromosome 6 and cDNAs to define the genomic structure of estrogen receptor beta genes and novel polymorphism in the estrogen receptor gene / protein. Such polymorphism can lead to a variety of disorders that are mediated / modulated by a variant estrogen receptor, such as a susceptibility to cancer, osteoporosis, cardiovascular disorder, etc. Based on this sequencing approach, the present invention provides genomic nucleotide sequences, CDNA sequences, amino acid sequences and sequence polymorphism in the ESR-beta genes, methods of detecting these sequences / polymorphism in a sample, methods of determining a risk of having or developing a disorder mediated by a variant estrogen receptor and methods of screening for compounds used to treat disorders mediated by a variant estrogen receptor.
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Description

[0001] The present application claims priority to provisional application U.S. Ser. No. 60 / 183,755, filed Feb. 22, 2000 (Atty. Docket CL000280-PROV).

[0002] The present invention is in the field of disease detection and therapy. The present invention specifically provides the identification of previously unknown nucleic acid / amino acid polymorphisms within the estrogen receptor beta gene (ESR-beta) and the genomic sequence of this gene for use in the development of diagnostics and therapies for diseases and disorders mediated / modulated by the estrogen receptor.BACKGROUND OFF THE INVENTIONEstrogen Receptor

[0003] The human estrogen receptor beta belongs to the nuclear hormone receptor family. Nuclear hormone receptors are a family of hormone-activated transcription factors that can initiate or enhance the transcription of genes containing specific hormone response elements.

[0004] The ER protein consists of 595 amino acids with a molecular weight of 66 kDa, 8 transcribed exons, with six...

Claims

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